Table 3. Replication and Analysis of Association Results at Lead SNPs.
Locusa | Chr | Lead SNPb | Base Pairc | Allele 1/2 | Discovery Cohort | Replication Cohorts | Discovery and Replication Analysis | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
United States | Australia and Northern Ireland | Victoria, Australia | ||||||||||||
Odds Ratio (95% CI) | P Value | Odds Ratio (95% CI) | P Value | Odds Ratio (95% CI) | P Value | Odds Ratio (95% CI) | P Value | P Value | Direction | |||||
PNPLA2 | 11 | rs61876744 | 820754 | T/C | 0.59 (0.49-0.71) | 7.46 × 10−9 | 0.77 (0.63-0.95) | 8.88 × 10−4 | 0.84 (0.65-1.08) | .18 | 0.97 (0.79-1.19) | .76 | 2.45 × 10−8 | −, −, −, − |
MAML2 | 11 | rs10831500 | 95982642 | G/T | 1.59 (1.33-1.91) | 3.91 × 10−7 | 1.35 (1.11-1.65) | 5.69 × 10−3 | 1.09 (0.85-1.40) | .52 | 1.03 (0.84-1.26) | .79 | 3.83 × 10−6 | +, +, +, + |
CSNK1E | 22 | rs138378 | 38796159 | A/G | 0.50 (0.41-0.61) | 1.77 × 10−11 | 0.95 (0.78-1.16) | .79 | 0.97 (0.76-1.24) | .82 | 0.93 (0.76-1.13) | .45 | 3.18 × 10−4 | −, −, −, − |
Abbreviations: Chr, chromosome; CSNK1E, casein kinase I isoform epsilon; MAML2, mastermind-like transcriptional coactivator 2; PNPLA2, patatin-like phospholipase domain containing 2; SNP, single-nucleotide polymorphism.
Locus assigned to the RefSeq protein-coding gene within or near the association signal interval.
The lead SNP at CSNK1E (rs138380) was not successfully genotyped in the Australia and Northern Ireland and Victoria, Australia, cohorts, and a proxy (rs138378, R2 = 0.938) was used for replication instead.
Genomic positions are based on hg19.